Mutations of the INI1 Rhabdoid Tumor Suppressor Gene in Medulloblastomas and Primitive Neuroectodermal Tumors of the Central Nervous System

摘要: Germ-line and somatic mutations of the hSNF5/INI1 gene have been reported in atypical teratoid/rhabdoid tumors (AT/RTs) brain, consistent with its role as a tumor suppressor gene. In present study, we determined frequency deletions INI1 52 children whose original diagnosis was medulloblastoma (MB) or primitive neuroectodermal (PNET) central nervous system. Mutations were detected DNA isolated from four tumors, all less than 3 years age at diagnosis. Two reviewed reclassified teratoid tumor, whereas there insufficient material to establish this two remaining cases. The relatively low mutations, even large series infants, suggests that loss sequences chromosome 22 and/or do not account for poor prognosis MB PNET who are Nevertheless, deletion INI1-mutation analysis infants MB/PNET should be considered 1 year age. Detection these child has an AT/RT, rather MB/PNET, finding important prognostic value.